Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy.
Coulter-Mackie
M B
MB
Department of Pediatrics, University of British Columbia, Vancouver, Canada.
Gagnier
L
L
D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution; D000818:Animals; D019556:COS Cells; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology / Q000235:genetics*; D008297:Male; D009154:Mutation; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational
D004247:DNA; D002553:Cerebroside-Sulfatase